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Aliases for GSDMD Gene

Aliases for GSDMD Gene

  • Gasdermin D 2 3 5
  • Gasdermin Domain-Containing Protein 1 3 4
  • Gasdermin Domain Containing 1 2 3
  • GSDMDC1 3 4
  • DFNA5L 3 4
  • Gasdermin-D 3
  • FKSG10 3
  • DF5L 3

External Ids for GSDMD Gene

Previous HGNC Symbols for GSDMD Gene

  • GSDMDC1

Previous GeneCards Identifiers for GSDMD Gene

  • GC08P144712
  • GC08P144640
  • GC08P139886
  • GC08P144641

Summaries for GSDMD Gene

Entrez Gene Summary for GSDMD Gene

  • Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]

GeneCards Summary for GSDMD Gene

GSDMD (Gasdermin D) is a Protein Coding gene. Among its related pathways are Immune System and Toll-Like receptor Signaling Pathways. An important paralog of this gene is GSDMA.

UniProtKB/Swiss-Prot for GSDMD Gene

  • Gasdermin-D, N-terminal: Promotes pyroptosis in response to microbial infection and danger signals. Produced by the cleavage of gasdermin-D by inflammatory caspases CASP1 or CASP4 in response to canonical, as well as non-canonical (such as cytosolic LPS) inflammasome activators (PubMed:26375003, PubMed:26375259, PubMed:27418190). After cleavage, moves to the plasma membrane where it strongly binds to inner leaflet lipids, including monophosphorylated phosphatidylinositols, such as phosphatidylinositol 4-phosphate, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate, as well as phosphatidylinositol (3,4,5)-bisphosphate, and more weakly to phosphatidic acid and phosphatidylserine (PubMed:27281216). Homooligomerizes within the membrane and forms pores of 10 - 15 nanometers (nm) of inner diameter, possibly allowing the release of mature IL1B and triggering pyroptosis (PubMed:27418190, PubMed:27281216). Exhibits bactericidal activity. Gasdermin-D, N-terminal released from pyroptotic cells into the extracellular milieu rapidly binds to and kills both Gram-negative and Gram-positive bacteria, without harming neighboring mammalian cells, as it does not disrupt the plasma membrane from the outside due to lipid-binding specificity (PubMed:27281216). Under cell culture conditions, also active against intracellular bacteria, such as Listeria monocytogenes (By similarity). Strongly binds to bacterial and mitochondrial lipids, including cardiolipin. Does not bind to unphosphorylated phosphatidylinositol, phosphatidylethanolamine nor phosphatidylcholine (PubMed:27281216).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GSDMD Gene

Genomics for GSDMD Gene

Regulatory Elements for GSDMD Gene

Enhancers for GSDMD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F143514 1.6 FANTOM5 Ensembl ENCODE 29 -34.6 -34614 7.4 PKNOX1 MLX ZFP64 FEZF1 GLIS2 SP5 MXD4 TSHZ1 ZNF488 KAT8 ENSG00000254859 GSDMD ENSG00000254574 ENSG00000253728 TOP1MT NAPRT ZC3H3 ENSG00000253931 PARP10 GC08P143506
GH08F143523 1.6 FANTOM5 Ensembl ENCODE 25.4 -26.3 -26273 7.4 MLX ARID4B DMAP1 ZNF48 SLC30A9 GLIS2 SP5 NFYC ZHX2 MXD4 ENSG00000254859 GSDMD MAFA-AS1 ENSG00000253931 ZC3H3 GC08P143564 GC08P143506
GH08F143544 1.5 FANTOM5 ENCODE 24.8 -6.1 -6099 6.2 HDGF PKNOX1 ARNT CREB3L1 ARID4B YY1 FOS KLF13 SP5 JUNB ENSG00000254859 ZC3H3 GSDMD NAPRT C8orf82 MAF1 HSF1 TOP1MT GRINA SPATC1
GH08F143557 1 ENCODE 29.1 +5.3 5298 2.3 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 ZNF207 GSDMD NAPRT ENSG00000254859 MROH6 TOP1MT GC08M143556
GH08F143540 1.1 ENCODE 25.5 -11.8 -11798 2.2 PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF207 ENSG00000254859 GSDMD ZC3H3 FAM83H-AS1 GC08P143564 GC08P143506
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GSDMD on UCSC Golden Path with GeneCards custom track

Promoters for GSDMD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001404161 -7 1601 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A YY1 FOS KLF13 SP5

Genomic Location for GSDMD Gene

Chromosome:
8
Start:
143,553,207 bp from pter
End:
143,563,062 bp from pter
Size:
9,856 bases
Orientation:
Plus strand

Genomic View for GSDMD Gene

Genes around GSDMD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GSDMD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GSDMD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GSDMD Gene

Proteins for GSDMD Gene

  • Protein details for GSDMD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57764-GSDMD_HUMAN
    Recommended name:
    Gasdermin-D
    Protein Accession:
    P57764
    Secondary Accessions:
    • A8K702
    • D3DWJ9
    • Q96Q98

    Protein attributes for GSDMD Gene

    Size:
    484 amino acids
    Molecular mass:
    52801 Da
    Quaternary structure:
    • In response to a canonical inflammasome stimulus, such as nigericin, recruited to NLRP3 inflammasone with similar kinetics to that of uncleaved CASP1 precursor. Although this recruitment is also observed in the absence of PYCARD, it is more efficient in its presence (By similarity). Gasdermin-D, N-terminal forms disulfide-linked homooligomers (16-mers) in a Ca(+2)-independent manner. Oligomerization occurs in the presence of membranes; cytosolic Gasdermin-D, N-terminal remains monomeric (PubMed:27281216).

neXtProt entry for GSDMD Gene

Post-translational modifications for GSDMD Gene

  • Cleavage at Asp-275 by CASP1 (mature and uncleaved precursor forms) or CASP4 relieves autoinhibition and is sufficient to initiate pyroptosis.
  • Ubiquitination at Lys 51
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for GSDMD Gene

Domains & Families for GSDMD Gene

Protein Domains for GSDMD Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P57764

UniProtKB/Swiss-Prot:

GSDMD_HUMAN :
  • Intramolecular interactions between N- and C-terminal domains may be important for autoinhibition in the absence of cleavage by inflammatory caspases CASP1 or CASP4. The intrinsic pyroptosis-inducing activity is carried by gasdermin-D, N-terminal, that is released upon cleavage by inflammatory caspases.
  • Belongs to the gasdermin family.
Domain:
  • Intramolecular interactions between N- and C-terminal domains may be important for autoinhibition in the absence of cleavage by inflammatory caspases CASP1 or CASP4. The intrinsic pyroptosis-inducing activity is carried by gasdermin-D, N-terminal, that is released upon cleavage by inflammatory caspases.
Family:
  • Belongs to the gasdermin family.
genes like me logo Genes that share domains with GSDMD: view

No data available for Gene Families for GSDMD Gene

Function for GSDMD Gene

Molecular function for GSDMD Gene

UniProtKB/Swiss-Prot Function:
Gasdermin-D, N-terminal: Promotes pyroptosis in response to microbial infection and danger signals. Produced by the cleavage of gasdermin-D by inflammatory caspases CASP1 or CASP4 in response to canonical, as well as non-canonical (such as cytosolic LPS) inflammasome activators (PubMed:26375003, PubMed:26375259, PubMed:27418190). After cleavage, moves to the plasma membrane where it strongly binds to inner leaflet lipids, including monophosphorylated phosphatidylinositols, such as phosphatidylinositol 4-phosphate, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate, as well as phosphatidylinositol (3,4,5)-bisphosphate, and more weakly to phosphatidic acid and phosphatidylserine (PubMed:27281216). Homooligomerizes within the membrane and forms pores of 10 - 15 nanometers (nm) of inner diameter, possibly allowing the release of mature IL1B and triggering pyroptosis (PubMed:27418190, PubMed:27281216). Exhibits bactericidal activity. Gasdermin-D, N-terminal released from pyroptotic cells into the extracellular milieu rapidly binds to and kills both Gram-negative and Gram-positive bacteria, without harming neighboring mammalian cells, as it does not disrupt the plasma membrane from the outside due to lipid-binding specificity (PubMed:27281216). Under cell culture conditions, also active against intracellular bacteria, such as Listeria monocytogenes (By similarity). Strongly binds to bacterial and mitochondrial lipids, including cardiolipin. Does not bind to unphosphorylated phosphatidylinositol, phosphatidylethanolamine nor phosphatidylcholine (PubMed:27281216).

Gene Ontology (GO) - Molecular Function for GSDMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding ISS --
GO:0005515 protein binding IPI 25416956
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding ISS --
GO:0070273 phosphatidylinositol-4-phosphate binding ISS --
GO:0070300 phosphatidic acid binding ISS --
genes like me logo Genes that share ontologies with GSDMD: view
genes like me logo Genes that share phenotypes with GSDMD: view

Animal Models for GSDMD Gene

MGI Knock Outs for GSDMD:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GSDMD Gene

Localization for GSDMD Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSDMD Gene

Gasdermin-D: Cytoplasm, cytosol. Inflammasome. Note=In response to a canonical inflammasome stimulus, such as nigericin, recruited to NLRP3 inflammasone with similar kinetics to that of uncleaved CASP1 precursor. {ECO:0000250 UniProtKB:Q9D8T2}.
Gasdermin-D, N-terminal: Cell membrane. Secreted. Note=Released in the extracellular milieu following pyroptosis. {ECO:0000250 UniProtKB:Q9D8T2}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GSDMD gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 4
peroxisome 1

Gene Ontology (GO) - Cellular Components for GSDMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space ISS --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol ISS --
genes like me logo Genes that share ontologies with GSDMD: view

Pathways & Interactions for GSDMD Gene

genes like me logo Genes that share pathways with GSDMD: view

Pathways by source for GSDMD Gene

2 Reactome pathways for GSDMD Gene
1 KEGG pathway for GSDMD Gene

Interacting Proteins for GSDMD Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000262580%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000347188%0d%0a
Selected Interacting proteins: ENSP00000262580 P57764-GSDMD_HUMAN for GSDMD Gene via STRING UniProtKB IID

Gene Ontology (GO) - Biological Process for GSDMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006954 inflammatory response IEA --
GO:0012501 programmed cell death IEA --
GO:0019835 cytolysis ISS --
GO:0031668 cellular response to extracellular stimulus IEA --
genes like me logo Genes that share ontologies with GSDMD: view

No data available for SIGNOR curated interactions for GSDMD Gene

Transcripts for GSDMD Gene

Unigene Clusters for GSDMD Gene

Gasdermin D:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GSDMD Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a ·
SP1: - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - -
SP4: - - -
SP5:
SP6: - - - - - -
SP7: - - - -
SP8: - - -
SP9: - - -
SP10: - -
SP11: - -
SP12:
SP13:

ExUns: 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16a · 16b
SP1: - -
SP2: - -
SP3:
SP4:
SP5: - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for GSDMD Gene

GeneLoc Exon Structure for
GSDMD
ECgene alternative splicing isoforms for
GSDMD

Expression for GSDMD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GSDMD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GSDMD Gene

This gene is overexpressed in Whole Blood (x4.6) and Spleen (x4.4).

Protein differential expression in normal tissues from HIPED for GSDMD Gene

This gene is overexpressed in Adrenal (18.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GSDMD Gene



Protein tissue co-expression partners for GSDMD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GSDMD Gene:

GSDMD

SOURCE GeneReport for Unigene cluster for GSDMD Gene:

Hs.118983

mRNA Expression by UniProt/SwissProt for GSDMD Gene:

P57764-GSDMD_HUMAN
Tissue specificity: Expressed in the suprabasal cells of esophagus, as well as in the isthmus/neck, pit, and gland of the stomach, suggesting preferential expression in differentiating cells.
genes like me logo Genes that share expression patterns with GSDMD: view

Orthologs for GSDMD Gene

This gene was present in the common ancestor of chordates.

Orthologs for GSDMD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GSDMD 34 35
  • 98.48 (n)
dog
(Canis familiaris)
Mammalia GSDMD 34 35
  • 75.75 (n)
cow
(Bos Taurus)
Mammalia GSDMD 34 35
  • 75.45 (n)
rat
(Rattus norvegicus)
Mammalia Gsdmd 34
  • 71.52 (n)
mouse
(Mus musculus)
Mammalia Gsdmd 34 16 35
  • 69.95 (n)
oppossum
(Monodelphis domestica)
Mammalia GSDMD 35
  • 39 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 35 (a)
OneToMany
chicken
(Gallus gallus)
Aves GSDMA 35
  • 25 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 23 (a)
OneToMany
Species where no ortholog for GSDMD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GSDMD Gene

ENSEMBL:
Gene Tree for GSDMD (if available)
TreeFam:
Gene Tree for GSDMD (if available)

Paralogs for GSDMD Gene

Paralogs for GSDMD Gene

(2) SIMAP similar genes for GSDMD Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with GSDMD: view

Variants for GSDMD Gene

Sequence variations from dbSNP and Humsavar for GSDMD Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs10099003 -- 143,563,290(+) TCTCT(A/G)CCTGT downstream-variant-500B
rs10099546 -- 143,556,564(+) ACAAC(A/G)AAAAA intron-variant, upstream-variant-2KB
rs1054314 -- 143,562,856(+) GCACT(C/T)TACGC reference, synonymous-codon
rs1054315 -- 143,562,957(+) TGCCC(A/C)CCAGC utr-variant-3-prime
rs11136298 -- 143,560,816(+) GGGCA(C/T)GCGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GSDMD Gene

Variant ID Type Subtype PubMed ID
nsv950013 CNV deletion 24416366
nsv824770 CNV gain 20364138
nsv612811 CNV loss 21841781
nsv612805 CNV gain+loss 21841781
nsv612801 CNV loss 21841781
nsv612793 CNV loss 21841781
nsv612783 CNV gain 21841781
nsv612777 CNV gain 21841781
nsv612774 CNV loss 21841781
nsv516210 CNV loss 19592680
nsv476374 CNV novel sequence insertion 20440878
nsv470248 CNV gain 18288195
nsv470247 CNV loss 18288195
nsv466000 CNV loss 19166990
nsv1161810 CNV deletion 26073780
nsv1161809 CNV deletion 26073780
nsv1112972 CNV deletion 24896259
esv9611 CNV loss 19470904
esv4204 CNV loss 18987735
esv3619112 CNV loss 21293372
esv3544388 CNV deletion 23714750
esv29963 CNV loss 17803354
esv2738019 CNV deletion 23290073
esv2738018 CNV deletion 23290073
esv27296 CNV loss 19812545
esv2665566 CNV deletion 23128226
esv2659876 CNV deletion 23128226
esv1175692 CNV insertion 17803354
dgv7336n100 CNV gain 25217958
dgv12417n54 CNV loss 21841781
dgv12416n54 CNV loss 21841781
dgv12415n54 CNV loss 21841781
dgv12414n54 CNV loss 21841781
dgv12413n54 CNV gain+loss 21841781
dgv12412n54 CNV loss 21841781
dgv12411n54 CNV loss 21841781
dgv12410n54 CNV loss 21841781
dgv1200n67 CNV loss 20364138

Variation tolerance for GSDMD Gene

Residual Variation Intolerance Score: 88.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.28; 52.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GSDMD Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSDMD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GSDMD Gene

Disorders for GSDMD Gene

Relevant External Links for GSDMD

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GSDMD

No disorders were found for GSDMD Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GSDMD Gene

Publications for GSDMD Gene

  1. Identification and characterization of human DFNA5L, mouse Dfna5l, and rat Dfna5l genes in silico. (PMID: 15289881) Katoh M. … Katoh M. (Int. J. Oncol. 2004) 2 3 4 22 64
  2. Cleavage of GSDMD by inflammatory caspases determines pyroptotic cell death. (PMID: 26375003) Shi J. … Shao F. (Nature 2015) 3 4 64
  3. Distinctive expression and function of four GSDM family genes (GSDMA-D) in normal and malignant upper gastrointestinal epithelium. (PMID: 19051310) Saeki N. … Sasaki H. (Genes Chromosomes Cancer 2009) 3 4 64
  4. Members of a novel gene family, Gsdm, are expressed exclusively in the epithelium of the skin and gastrointestinal tract in a highly tissue-specific manner. (PMID: 17350798) Tamura M. … Shiroishi T. (Genomics 2007) 2 3 64
  5. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C. … Lander E.S. (Nature 2006) 3 4 64

Products for GSDMD Gene

Sources for GSDMD Gene

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